HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154603A>G , CM000668.2:g.3154603A>G | GRCh38 |
NC_000006.11:g.3154837A>G , CM000668.1:g.3154837A>G | GRCh37 |
NC_000006.10:g.3099836A>G | NCBI36 |
NG_042223.1:g.7947T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.598T>C MANE Select | ENSP00000369703.2:p.Tyr200His | |
ENST00000679400.1:n.654T>C | ||
ENST00000679907.1:n.986T>C | ||
ENST00000680036.1:n.1380T>C | ||
ENST00000680967.1:n.1688T>C | ||
ENST00000333628.3:c.598T>C | ENSP00000369703.2:p.Tyr200His | |
ENST00000489942.1:n.793T>C | ||
NM_001069.2:c.598T>C | NP_001060.1:p.Tyr200His | |
NM_001310315.1:c.343T>C | NP_001297244.1:p.Tyr115His | |
NM_001069.3:c.598T>C MANE Select | NP_001060.1:p.Tyr200His | |
NM_001310315.2:c.343T>C | NP_001297244.1:p.Tyr115His |